Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study
Author:
Funder
Indian Council of Medical Research
Publisher
Springer Science and Business Media LLC
Subject
Pediatrics, Perinatology and Child Health
Link
https://link.springer.com/content/pdf/10.1007/s12098-022-04207-y.pdf
Reference29 articles.
1. El-Hattab AW, Sutton VR. Approach to inborn errors of metabolism in pediatrics. Pediatr Clin North Am. 2018;65:xix–xx.
2. Verma IC, Bijarnia S. The burden of genetic disorders in India and a framework for community control. Community Genet. 2002;5:192–6.
3. Saudubray JM, Garcia-Cazorla A. An overview of inborn errors of metabolism affecting the brain: from neurodevelopment to neurodegenerative disorders. Dialogues Clin Neurosci. 2018;20:301–25.
4. Reddy C, Saini AG. Metabolic epilepsy. Indian J Pediatr. 2021;88:1025–32.
5. Bijarnia-Mahay S, Kapoor S. Testing modalities for inborn errors of metabolism - what a clinician needs to know? Indian Pediatr. 2019;56:757–66.
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